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Abstract Sharing clinical and genomic data is essential for accurate variant interpretation, the advancement of genomic research, and supporting couples planning to conceive. This cross-sectional study examined attitudes toward newborn genomic data sharing in a cohort of peripartum mothers in Slovenia. Among the 1111 respondents, 84% expressed willingness to share anonymized genomic data to benefit other couples and to advance novel diagnostic and preventive strategies.
Abstract The concept of disease severity is encountered in numerous clinical situations, especially with genetic disorders. However, there is still no standardized method for defining severity. This study aimed to establish a patient-centred approach for classifying genetic disease characteristics into severity groups, with a focus on the perspectives of expectant parents.
As a journalist, you can create a free Muck Rack account to customize your profile, list your contact preferences, and upload a portfolio of your best work.